617-726-5532Our Huntington's Disease Program

Huntington's disease is a neurological disorder that causes physical, cognitive, and emotional symptoms that can worsen over time. It's caused by a rare genetic mutation.

At the Massachusetts General Hospital Huntington’s Disease Center of Excellence, we provide expert care and support to patients and their families. Our multidisciplinary team includes experts in neurology, physical therapy, occupational therapy, speech therapy, and social work.

We are dedicated to improving quality of life for people at risk, or living with, Huntington’s disease—and for the families that support them. Our team offers guidance through the genetic testing process, manages symptoms with medications and referrals to supportive therapies, and provides ongoing education. We also offer hope through advanced treatments, personalized care plans, and opportunities to participate in research exploring new and innovative therapies.

We are here to support you every stage of the journey—from before symptoms begin through the most advanced stages of Huntington's disease.

What Is Huntington's Disease?

Huntington's disease is a rare genetic condition that affects the brain, causing brain cells to stop working and eventually die. People with Huntington's disease experience a wide variety of symptoms affecting mood, cognitive function, and movements.

The disease is caused by a mutation in the HTT (huntingtin) gene. Huntington’s symptoms typically start between the ages of 30 and 50, although some people develop symptoms before they turn 20, which is known as "early-onset" or "juvenile" Huntington's disease.

Huntington's Disease Symptoms

Symptoms of Huntington's disease can cause a wide range of symptoms because problems in the brain may impact nearly every system in the body. As the disease progresses, affecting more of the brain, patients will experience increasing difficulty with visual perception, swallowing, communication, motor control, sleep, and more. These symptoms can gradually interfere with a person’s ability to remain independent.

Currently, there's no cure for Huntington's and no way to slow its progression. At the moment, treatment for Huntington's disease focuses on managing symptoms to improve quality of life. However, clinical trials are underway to explore therapies that may delay onset or slow the progression of the disease.

What Are the First Signs of Huntington's Disease?

If you suspect there's something wrong or if you have a family history of HD, it’s important to speak with your doctor.

Typical first signs of Huntington's include:

  • Difficulty concentrating or focusing
  • Difficulty multi-tasking
  • Memory difficulties
  • Mood changes, such as apathy, low mood, or irritability
  • Increased clumsiness

All these signs can be normal parts of life. For example, it's common to feel irritable during stressful times, so the early signs of Huntington's disease may not seem like symptoms of an illness at first.

As the condition progresses, Huntington's symptoms may change and/or become more pronounced.

Motor Symptoms of Huntington's

One of the most distinctive Huntington's symptoms is "Huntington's chorea." These involuntary jerking movements can affect the whole body, especially the arms, legs, and face. People with Huntington's may also experience difficulty performing voluntary movements.

Examples include:

  • Involuntary movements or "chorea"
  • Muscle stiffness
  • Speech problems such as slurred speech
  • Difficulty swallowing
  • Difficulty with eye movements, which can impact coordination and the ability to navigate spaces safely
  • Problems walking or with balance
  • Inability to coordinate motor movements

Cognitive Symptoms of Huntington's

In addition to the physical challenges that Huntington's disease presents, people with Huntington's can experience gradual cognitive decline, similar to dementia.

Possible cognitive signs of Huntington's disease include:

  • Difficulty learning new information
  • Difficulty organizing, planning, or making decisions
  • Impaired judgement
  • Impairments in memory
  • Slow thinking and reaction times

Emotional Symptoms of Huntington's

Huntington's disease can cause symptoms that affect emotional stability and well-being, such as:

  • Anxiety
  • Depression
  • Mood swings
  • Suicidal ideation
  • Personality changes
  • Anger

Huntington's Disease Causes

Huntington's disease is hereditary. A single gene mutation on the HTT gene causes Huntington's disease.

How Is Huntington's Disease Inherited?

Except for genes on the X and Y sex chromosomes, everyone has two copies of each gene in their DNA—one copy from each parent. That means that everyone has two copies of the HTT gene. Most people have the healthy gene, but you can inherit one copy of the unhealthy mutated gene if either of your parents has Huntington's disease.

Is Huntington's Dominant or Recessive?

Huntington's disease follows an inheritance pattern called "autosomal dominance," meaning it only takes one copy of the mutation to cause the disease. Most people with Huntington's disease have only one copy of the mutation and have a 50% chance of passing it on to their children.

FAQs About Huntington's Disease Symptoms and Causes

What age do symptoms of Huntington's disease start?

Huntington's disease symptoms usually appear for the first time between the ages of 30 and 50.

How common is Huntington's disease?

Huntington's disease is rare, affecting about five in every 100,000 people in the United States. It is more common in Europe and among Americans of European descent compared to other ethnic groups.

What is life like for a person with Huntington’s disease?

Everyone’s journey is different. At first, your symptoms may be minor and not interfere much with your daily life. However, as the disease progresses, Huntington's disease will affect your life more. You will likely become less independent and may need more help managing daily life, caring for yourself, and making decisions. At the end of the disease's progression, you'll likely need help in all areas of your life.

Can you live a normal life with Huntington’s disease?

We encourage our patients to focus on quality of life—on living as fully and meaningfully as possible. Because HD typically progresses slowly, many people are able to remain active and engaged for years after diagnosis.

Our specialists are here to help people with HD and their families throughout every stage of the journey. This includes helping with future planning early on, managing increasing functional changes as the disease progresses, and providing compassionate care at the end of life, including palliative support when needed.

Living with HD is challenging, but with a strong clinical team and supportive care at home, people with Huntington’s can continue to find purpose, connection, and joy.

How close are we to having a cure for Huntington’s disease?

Currently, there's no cure for Huntington's disease. However, clinical trials have shown some promise in interfering with the production of mHTT, the protein produced by the Huntington gene mutation. The timeline to develop a safe, effective treatment based on these experiments is currently unknown but there is hope that an effective treatment may be on the horizon.